Hirschsprung's Disease

Definition

Hirschsprung's disease is a rare disorder of the colon. It is present at birth. This disease causes problems with the movement within the colon. It usually affects the last 1-2 feet of the colon. Hirschsprung's can make it difficult to have effective bowel movements.

Causes

The colon is a muscular tube. It pushes waste to the rectum by squeezing then relaxing. Nerves tell the colon when to squeeze and when to relax.

In Hirschsprung's disease, the nerve cells that tell parts of the colon to relax are missing. This means that parts of the colon never relax and fully open. This can make it difficult for the waste to move through the affected area.

The missing nerve cells are due to a genetic defect.
In some cases, Hirschsprung is hereditary. This means parents could pass it to their children. Genes from the parents can be passed even if the parents do not have the disease.

Risk Factors

Factors that may increase your child's chance of Hirschsprung's include:

The pressure inside your colon may be measured. This can be done with anoretal manometry.

Treatment

Surgery is the primary treatment for Hirschsprung's. The earlier the treatment is done, the better the outcome may be. Recovery may also be easier if a shorter bowel segment is involved.

The goal of surgery is to remove the affected portion of the colon. Other surgery may be done to provide support to the bowel while it heals. Potential
surgical procedures may include:

Pull-through operation—The affected area of the colon is removed. The remaining healthy colon is then brought down and joined to the rectum.

Colostomy—This may be done to allow your bowel time to rest and heal. After the affected area of colon is removed, the healthy colon is not immediately connected to the rectum. Instead, the colon is attached to an opening in the abdominal wall. Waste will then pass through this opening and into a bag outside the body. This may be done in children who are very sick or have a large portion of the colon affected.

Closure of the colostomy—After the area has healed, the colon will be connected to the rectum. The colostomy opening will be closed. Bowel function will gradually return to normal.

Surgery of the bowel can cause serious complications. Talk to your doctor about treatment benefits and risks.

Prevention

There are no guidelines for the prevention of Hirschsprung's.

If you have one child with the disease, you could have more children with the disease. Talk to your doctor about the risk. Consider going to genetic counseling.

Revision Information

This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.

Hirschsprung's disease. American Academy of Family Physicians Family Doctor website. Available at:
http://familydoctor.org/familydoctor/en/diseases-conditions/hirschsprungs-disease.html. Updated July 2010. Accessed June 27, 2013.